Patients with ACVR1R206H mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Progressiva
Genetic contributors to cardiac arrhythmias are often found in cardiovascular conduction pathways and ion channel proteins. Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare disease of massive heter...
Conclusions: Abnormalities on ECG, that is prolongation of QRS duration, QT interval, and QTc interval were significantly associated with cardiac iron overload, that is decrease in the value of Cardiac T2* in our study.
Authors: Zhang P, Zou JZ, Chen J, Tan X, Xiang FF, Shen B, Hu JC, Wang JL, Wang YQ, Yu JB, Nie YX, Chen XH, Yu JW, Zhang Z, Lv WL, Xie YQ, Cao XS, Ding XQ Abstract BACKGROUND: Trimethylamine-N-Oxide (TMAO) is a proatherogenic and prothrombotic metabolite. Our study examined the association of plasma TMAO level with cardiovascular and all-cause mortality in hemodialysis (HD) patients. METHODS: Patients who were at least 18 years-old and received HD for at least 6 months were enrolled within 6 months. Patients with coronary heart disease, congestive heart failure, arrhythmia, or stroke within...
Conclusion: Patients with metastatic MSO have an excellent disease-specific OS rate, FIGO stage IV and age over 55 years were two factors affecting disease prognosis. Conservative surgery with residual ablation by RAI after total thyroidectomy should be preferred since the benefits of aggressive surgery are uncertain.
CONCLUSIONS: We found that α GAL activity in patients with FSGS is lower than that in patients undergoing HD. The low enzyme activity in patients with FSGS may be explained by considering the similar pathogenesis of FSGS and FD, which may also lead to sphingolipid deposition and podocyte injury.
We report here the complete clinical course of a renal transplant recipient with critical COVID-19 pneumonia. In the early phase of SARS-Cov-2 infection, the patient exhibited extensive lung lesions and significant acute kidney and heart injuries, which required treatment in the ICU. After correcting the arrhythmia and heart failure, the patient recovered quickly from the acute kidney injury with a treatment of intensive diuresis and strict control of fluid intake. Without cessation of oral immunosuppressive agents, the patient presented a delayed and low antibody response against SARS-Cov-2 and reappeared positive for the...
(JAMA Network) Electrocardiographic findings a woman in her 50s with COVID-19, fever and shortness of breath, with comorbidities that included morbid obesity and obstructive sleep apnea, are reported in this case series.
(Cincinnati Children's Hospital Medical Center) Following two decades of research on a group of rare diseases called hypereosinophilic syndrome at Cincinnati Children's Hospital Medical Center, the US Food and Drug Administration has approved the drug Nucala (mepolizumab) for use in the treatment of patients with hypereosinophilic syndrome.
The rare disease cures accelerator data and analytics platform (RDCA-DAP) is an integrated database and analytics hub, designed to help build tools to accelerate drug development across rare diseases. It is being developed by the Critical Path Institute (C-Path) and the National Organization for rare disorders (NORD) through a collaborative grant from FDA. The RDCA-DAP promotes sharing of patient-level data and encourages the standardization of prospective data collection, as well as providing tools for data exploration and for generating advanced data analysis solutions.
Acute chest pain and nonspecific chest symptoms in Duchenne muscular dystrophy (DMD) patients may be signs of myocardial injury and decline in cardiac function. Detailed clinical observations of these myocardial events and associated symptoms are therefore vital for better patient management. We retrospectively examined changes in the electrocardiogram (ECG) and cardiac function in three DMD patients with prolonged periods of acute chest pain. Chest pain onset was 9 years of age in case 1, 12 years in case 2, and 16 years in case 3.
In this study we compared findings of heart rate variability (HRV), electrocardiographic (ECG) and echocardiographic (Echo) parameters of children with Duchenne and Becker muscular dystrophy (BMD) compared with healthy controls. It is aimed to determine the early markers of cardiac involvement. Twenty-six genetically confirmed boys with DMD&BMD, and 44 age-matched controls were recruited.